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| 書誌情報 | ファイル |
|---|---|
| The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations Hamatani, Mio; Jingami, Naoto; Tsurusaki, Yoshinori; Shimada, Shino; Shimojima, Keiko; Asada-Utsugi, Megumi; Yoshinaga, Kenji; Uemura, Norihito; Yamashita, Hirofumi; Uemura, Kengo; Takahashi, Ryosuke; Matsumoto, Naomichi; Yamamoto, Toshiyuki (2016-10) Journal of human genetics, 61(10): 899-902 |  |
| CUL2-mediated clearance of misfolded TDP-43 is paradoxically affected by VHL in oligodendrocytes in ALS. Uchida, Tsukasa; Tamaki, Yoshitaka; Ayaki, Takashi; Shodai, Akemi; Kaji, Seiji; Morimura, Toshifumi; Banno, Yoshinori; Nishitsuji, Kazuchika; Sakashita, Naomi; Maki, Takakuni; Yamashita, Hirofumi; Ito, Hidefumi; Takahashi, Ryosuke; Urushitani, Makoto (2016-01-11) Scientific reports, 6 | |
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